Prevalence and disease predisposition of p.A91V perforin in an aged population of European ancestry

I Voskoboinik; P Lacaze; HSI Jang; T Flinsenberg; SL Fernando; I Kerridge; M Riaz; R Sebra; K Thia; T Noori; EE Schadt; JJ McNeil; JA Trapani

Journal article

Prevalence and disease predisposition of p.A91V perforin in an aged population of European ancestry

I Voskoboinik, P Lacaze, HSI Jang, T Flinsenberg, SL Fernando, I Kerridge, M Riaz, R Sebra, K Thia, T Noori, EE Schadt, JJ McNeil, JA Trapani

Blood | AMER SOC HEMATOLOGY | Published : 2020

DOI: 10.1182/BLOOD.2019003487

Abstract

In a population-based analysis including a large database restricted to patients over age 70, the authors demonstrate that the A91V polymorphism in the familial hemophagocytic lymphohistiocytosis–related gene is a nonpathological polymorphism that confers no increase in cancer, death, or immunopathology.

University of Melbourne Researchers

Ilia Voskoboinik Author

Joseph Trapani Author

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Grants

Awarded by National Institute on Aging

Funding Acknowledgements

This work was supported by a grant (U01AG029824) from the National Institute on Aging and the National Cancer Institute at the National Institutes of Health; by grants 334047, 1127060, and 1128587, and a fellowship (1059126) from the National Health and Medical Research Council of Australia; and Monash University and the Victorian Cancer Agency.